A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

被引：36

作者：

Luigetti, M. ^{[1
]}

Fabrizi, G. M. ^{[2
]}

Madia, F. ^{[1
]}

Ferrarini, M. ^{[2
]}

Conte, A. ^{[1
]}

Del Grande, A. ^{[1
]}

Tasca, G. ^{[1
]}

Tonali, P. A. ^{[1
]}

Sabatelli, M. ^{[1
]}

机构：

[1] Univ Cattolica Sacro Cuore, Inst Neurol, I-00168 Rome, Italy

[2] Univ Verona, Dept Neurol Sci & Vis, I-37100 Verona, Italy

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2010年 / 298卷 / 1-2期

关键词：

HSPB1; HSP27; CMT; dHMN; Sural nerve biopsy; Electromyography; CHARCOT-MARIE-TOOTH; HEAT-SHOCK-PROTEIN; HEREDITARY MOTOR NEUROPATHY; SMALL HEAT-SHOCK-PROTEIN-27 MUTATION; 27; GENE; DISEASE; DOMINANT; DIAGNOSIS; HSP27;

D O I：

10.1016/j.jns.2010.09.008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II. We describe an Italian patient with wasting and weakness of distal muscles, involving primarily and mostly the lower limbs and later the upper limbs, in which a novel mutation of HSPB1, T180I, was detected. Electrophysiological evaluation disclosed a pure motor axonal neuropathy. Sural nerve biopsy showed a mild reduction of myelinated fibre density. All these findings suggested a CMT2/dHMN phenotype. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：114 / 117

页数：4

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